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June 1996

Sorsby Fundus DystrophyA Family With the Ser181Cys Mutation of the Tissue Inhibitor of Metalloproteinases 3

Author Affiliations

From the Departments of Molecular and Medical Genetics (Drs Carrero-Valenzuela, Weleber, and Litt), Ophthalmology (Drs Klein, Weleber, and Murphey), and Biochemistry (Dr Litt), Oregon Health Sciences University, Portland.

Arch Ophthalmol. 1996;114(6):737-738. doi:10.1001/archopht.1996.01100130729016

Sorsby fundus dystrophy (SFD) is an autosomal dominant disorder that is characterized by bilateral loss of central vision secondary to choroidal neovascularization and/or pigment epithelial atrophy in the macula, with onset of visual symptoms usually in the fourth or fifth decade. Drusenlike changes may occur, with impaired dark adaptation and abnormal electroretinographic results.